Mutagenetix > Incidental Mutation

Incidental Mutation 'R7392:Lrrc4b'

573515

Institutional Source

Beutler Lab

Gene Symbol

Lrrc4b

Ensembl Gene

ENSMUSG00000047085

Gene Name

leucine rich repeat containing 4B

Synonyms

NGL-3, Lrig4, Ngl3

MMRRC Submission

045474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44091911-44112775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44111439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 437 (T437M)

Ref Sequence

ENSEMBL: ENSMUSP00000053123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035929] [ENSMUST00000058667] [ENSMUST00000127790] [ENSMUST00000135624] [ENSMUST00000146128] [ENSMUST00000152902] [ENSMUST00000156093] [ENSMUST00000156957]

AlphaFold

P0C192

PDB Structure

CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS AND IMMUNOGLOBULIN DOMAIN OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000035929

SMART Domains

Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	17	128	3.8e-24	PFAM
Pfam:DUF108	174	265	2.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000058667
AA Change: T437M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: T437M

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
LRR	208	229	1.62e2	SMART
LRR_TYP	230	253	3.63e-3	SMART
LRR	254	277	9.75e0	SMART
LRR_TYP	278	301	5.29e-5	SMART
LRRCT	313	364	1.92e-3	SMART
IGc2	378	445	1.45e-9	SMART
low complexity region	462	482	N/A	INTRINSIC
low complexity region	528	547	N/A	INTRINSIC
transmembrane domain	573	595	N/A	INTRINSIC
low complexity region	596	607	N/A	INTRINSIC
low complexity region	624	644	N/A	INTRINSIC
low complexity region	673	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127790

SMART Domains

Protein: ENSMUSP00000123389
Gene: ENSMUSG00000047085

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
Blast:LRR	183	207	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000135624

Predicted Effect

probably benign
Transcript: ENSMUST00000146128

SMART Domains

Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	5	110	1e-19	PFAM
Pfam:DUF108	153	252	7.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152902

Predicted Effect

probably benign
Transcript: ENSMUST00000156093

SMART Domains

Protein: ENSMUSP00000119374
Gene: ENSMUSG00000047085

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
Blast:LRR	183	207	2e-6	BLAST
LRR	208	230	3.65e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156957

SMART Domains

Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:DUF108	52	151	2.6e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,990 (GRCm39)	F564L	probably damaging	Het
Abcc2	T	C	19: 43,797,126 (GRCm39)	I499T	probably damaging	Het
Adamts13	C	T	2: 26,879,336 (GRCm39)	R630C	probably damaging	Het
Adgrv1	A	T	13: 81,708,808 (GRCm39)	F1199I	probably damaging	Het
Agbl5	G	A	5: 31,048,115 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,516,648 (GRCm39)	D881G	possibly damaging	Het
Arap2	A	T	5: 62,855,728 (GRCm39)	S569R	possibly damaging	Het
Arhgap15	T	C	2: 43,953,786 (GRCm39)	S171P	possibly damaging	Het
Arhgef11	G	A	3: 87,624,482 (GRCm39)		probably null	Het
Baz1a	C	A	12: 54,945,550 (GRCm39)	L1271F	probably damaging	Het
Bdnf	A	C	2: 109,554,275 (GRCm39)	K216N	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bnip5	A	T	17: 29,127,351 (GRCm39)	D219E	probably benign	Het
Cacna1c	T	A	6: 118,718,881 (GRCm39)	I390F		Het
Chd8	A	G	14: 52,470,312 (GRCm39)	S433P	probably benign	Het
Clrn2	A	G	5: 45,621,251 (GRCm39)	E215G	possibly damaging	Het
Col19a1	T	G	1: 24,573,115 (GRCm39)	D219A	unknown	Het
Col2a1	G	A	15: 97,878,032 (GRCm39)	R1036*	probably null	Het
Copg1	T	A	6: 87,867,257 (GRCm39)	V110D	probably benign	Het
Cpd	C	T	11: 76,692,605 (GRCm39)	G744D	probably damaging	Het
Crygs	G	A	16: 22,625,252 (GRCm39)	P63L	probably benign	Het
Dcn	A	G	10: 97,345,860 (GRCm39)	D224G	probably damaging	Het
Dnah7a	T	C	1: 53,540,820 (GRCm39)	E2518G	probably benign	Het
Efcab6	C	A	15: 83,873,152 (GRCm39)	R197L	probably benign	Het
Efr3b	T	A	12: 4,019,588 (GRCm39)	Y723F	probably benign	Het
Enam	A	G	5: 88,649,523 (GRCm39)	N344S	probably damaging	Het
Erich4	A	G	7: 25,315,101 (GRCm39)	I58T	possibly damaging	Het
Esrp1	A	G	4: 11,338,809 (GRCm39)	V665A	probably benign	Het
Etf1	G	A	18: 35,039,103 (GRCm39)	T388I	probably benign	Het
Faf1	A	G	4: 109,652,040 (GRCm39)	T244A	probably benign	Het
Fbn1	T	C	2: 125,185,844 (GRCm39)	D1610G	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Frem1	G	T	4: 82,932,064 (GRCm39)	F212L	probably benign	Het
Fuom	T	A	7: 139,681,073 (GRCm39)	D85V	probably damaging	Het
Gcfc2	T	C	6: 81,919,993 (GRCm39)		probably null	Het
Gpr37	C	T	6: 25,688,786 (GRCm39)	A104T	probably benign	Het
Hsp90ab1	G	C	17: 45,879,974 (GRCm39)	T514S	probably benign	Het
Ifnl2	A	G	7: 28,209,094 (GRCm39)	F74L	probably benign	Het
Ipo11	G	A	13: 107,028,199 (GRCm39)	R367*	probably null	Het
Itpr2	T	C	6: 146,260,838 (GRCm39)	D963G	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrch3	T	A	16: 32,807,125 (GRCm39)	L466*	probably null	Het
Lrfn5	A	T	12: 61,887,090 (GRCm39)	T293S	probably benign	Het
Lrp5	A	G	19: 3,660,199 (GRCm39)	I955T	probably damaging	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Mapkap1	G	T	2: 34,325,166 (GRCm39)	R94L	probably damaging	Het
Mtmr4	T	A	11: 87,495,383 (GRCm39)	L480Q	probably damaging	Het
Mycbp2	T	C	14: 103,389,627 (GRCm39)	I3504M	probably damaging	Het
Mycbp2	A	T	14: 103,480,564 (GRCm39)	C1169S	probably damaging	Het
Myo15a	T	C	11: 60,396,802 (GRCm39)	S1455P		Het
Niban1	A	G	1: 151,571,975 (GRCm39)	T307A	probably damaging	Het
Nid2	A	G	14: 19,818,724 (GRCm39)	D406G	probably benign	Het
Nrip2	A	G	6: 128,381,913 (GRCm39)	I69V	probably benign	Het
Nthl1	G	A	17: 24,857,598 (GRCm39)	V266I	probably benign	Het
Or2ag16	T	C	7: 106,352,589 (GRCm39)	E2G	possibly damaging	Het
Or5an6	G	T	19: 12,371,829 (GRCm39)	L67F	probably damaging	Het
Or5b21	A	G	19: 12,839,951 (GRCm39)	T271A	probably benign	Het
Or5g23	A	C	2: 85,438,832 (GRCm39)	C141G	possibly damaging	Het
Or5p75-ps1	C	A	7: 108,107,291 (GRCm39)	H9Q	possibly damaging	Het
Or8k25	A	G	2: 86,243,496 (GRCm39)	V300A	probably benign	Het
Or8s5	A	G	15: 98,238,192 (GRCm39)	V226A	probably benign	Het
Pcdhb1	A	C	18: 37,398,171 (GRCm39)	S41R	possibly damaging	Het
Pdcd11	T	A	19: 47,116,436 (GRCm39)	F1529I	probably damaging	Het
Plcd3	C	A	11: 102,992,383 (GRCm39)		probably benign	Het
Qdpr	T	C	5: 45,596,718 (GRCm39)	M149V	probably benign	Het
R3hcc1	T	A	14: 69,943,329 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,041,856 (GRCm39)	Y392C		Het
Slc8a3	A	C	12: 81,361,577 (GRCm39)	V414G	probably damaging	Het
Slco1a6	A	G	6: 142,103,003 (GRCm39)	S54P	probably benign	Het
Sos1	C	A	17: 80,731,629 (GRCm39)	V624F	probably damaging	Het
Spdef	T	C	17: 27,936,262 (GRCm39)	D227G	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Srsf12	A	T	4: 33,209,265 (GRCm39)	R62W	unknown	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Sult2b1	T	C	7: 45,391,862 (GRCm39)		probably benign	Het
Taf1a	A	G	1: 183,190,095 (GRCm39)	T66A		Het
Tfg	A	T	16: 56,532,972 (GRCm39)		probably null	Het
Trim34b	A	G	7: 103,985,604 (GRCm39)	N413S	probably benign	Het
Txndc15	T	A	13: 55,869,399 (GRCm39)	M184K	probably damaging	Het
Umodl1	A	C	17: 31,201,306 (GRCm39)	S412R	probably damaging	Het
Zbtb8b	T	A	4: 129,326,683 (GRCm39)	M161L	probably benign	Het
Zfp597	A	T	16: 3,684,369 (GRCm39)	V129E	probably benign	Het
Zfp790	T	C	7: 29,528,050 (GRCm39)	I245T	possibly damaging	Het

Other mutations in Lrrc4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0165:Lrrc4b	UTSW	7	44,111,739 (GRCm39)	missense	probably damaging	0.99
R1398:Lrrc4b	UTSW	7	44,111,876 (GRCm39)	missense	probably benign	0.44
R1421:Lrrc4b	UTSW	7	44,110,475 (GRCm39)	missense	probably benign	0.00
R1622:Lrrc4b	UTSW	7	44,111,654 (GRCm39)	unclassified	probably benign
R1681:Lrrc4b	UTSW	7	44,110,601 (GRCm39)	missense	probably damaging	0.99
R1778:Lrrc4b	UTSW	7	44,111,823 (GRCm39)	missense	probably benign
R1967:Lrrc4b	UTSW	7	44,111,654 (GRCm39)	unclassified	probably benign
R1989:Lrrc4b	UTSW	7	44,111,654 (GRCm39)	unclassified	probably benign
R2427:Lrrc4b	UTSW	7	44,111,976 (GRCm39)	missense	probably damaging	1.00
R3820:Lrrc4b	UTSW	7	44,111,982 (GRCm39)	missense	probably damaging	1.00
R3822:Lrrc4b	UTSW	7	44,111,982 (GRCm39)	missense	probably damaging	1.00
R4774:Lrrc4b	UTSW	7	44,111,796 (GRCm39)	splice site	probably null
R5249:Lrrc4b	UTSW	7	44,111,988 (GRCm39)	missense	possibly damaging	0.93
R5268:Lrrc4b	UTSW	7	44,110,787 (GRCm39)	missense	probably damaging	1.00
R6029:Lrrc4b	UTSW	7	44,111,754 (GRCm39)	missense	probably benign	0.00
R6984:Lrrc4b	UTSW	7	44,110,722 (GRCm39)	missense	possibly damaging	0.62
R7003:Lrrc4b	UTSW	7	44,094,580 (GRCm39)	missense	probably damaging	1.00
R7544:Lrrc4b	UTSW	7	44,111,975 (GRCm39)	missense	probably damaging	1.00
R7582:Lrrc4b	UTSW	7	44,111,234 (GRCm39)	missense	probably benign	0.00
R7596:Lrrc4b	UTSW	7	44,111,310 (GRCm39)	missense	probably damaging	1.00
R7830:Lrrc4b	UTSW	7	44,111,231 (GRCm39)	missense	possibly damaging	0.76
R7836:Lrrc4b	UTSW	7	44,094,316 (GRCm39)	start gained	probably benign
R8116:Lrrc4b	UTSW	7	44,110,533 (GRCm39)	missense	probably damaging	1.00
R8147:Lrrc4b	UTSW	7	44,111,829 (GRCm39)	missense	probably damaging	1.00
R8376:Lrrc4b	UTSW	7	44,112,018 (GRCm39)	missense	probably benign	0.00
R9226:Lrrc4b	UTSW	7	44,112,099 (GRCm39)	missense	possibly damaging	0.85
R9674:Lrrc4b	UTSW	7	44,111,852 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrrc4b	UTSW	7	44,110,736 (GRCm39)	frame shift	probably null
Z1176:Lrrc4b	UTSW	7	44,094,547 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc4b	UTSW	7	44,111,335 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc4b	UTSW	7	44,094,404 (GRCm39)	missense	unknown
Z1177:Lrrc4b	UTSW	7	44,094,403 (GRCm39)	missense	unknown
Z1177:Lrrc4b	UTSW	7	44,112,041 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAATGTCACCGAGGGCATG -3'
(R):5'- GTCCTTAAGCGCATTCTCCG -3'

Sequencing Primer
(F):5'- ATGGCGGCTGAGCTCAAG -3'
(R):5'- ACCGTGAAAGCCTTCTCCGTG -3'

Posted On

2019-09-13